IRCCS AOU Policlinico “S.Orsola-Malpighi”

Bologna, Italy

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

The IRCCS is a leading center for rare diseases in Emilia-Romagna, caring for over 10,300 patients with more than 200 different conditions—nearly a quarter of the region’s total rare disease patient population.

As part of the regional Hub&Spoke network, the institution plays a pivotal role in coordinating specialized care for patients with rare diseases, following tailored clinical pathways.

The center also conducts essential newborn screenings, enabling early detection and treatment of rare diseases.

Offering a comprehensive approach, the IRCCS provides multidisciplinary care, from pediatrics to adulthood, ensuring patients have access to specialized treatments and follow-up care.

To enhance accessibility, the IRCCS is developing a metropolitan network with the AUSL of Bologna and the Rizzoli Orthopedic Institute, facilitating access to specialized consultations for patients.

The hospital follows adult patients with inherited metabolic diseases, diagnosed through newborn screening or later, generally transitioning from pediatric care upon reaching adulthood.

The following groups of disorders represent the main areas of expertise of the HCP:

  • Congenital defects of amino acid metabolism and transport
  • Congenital defects of carbohydrate metabolism and transport
  • Congenital defects of mitochondrial fatty acid oxidation

Specific treatments and interventions provided by the HCPs

Services provided include blood tests, assessment of nutritional status, neurocognitive and neurological status. Psychosocial function, well-being, and quality of life are also assessed. Specialized dietitians provide dietary counseling.

Additionally, research is conducted on:

  • Body composition and liver stiffness in patients with Inherited Metabolic Disorders
  • Psychosocial disturbances in patients following restrictive diets
  • Development of group educational therapy for better disease management (for patients and caregivers)
  • Development of information technologies for improved communication with the center
  • Sponsored clinical trials of new therapies for Inherited Metabolic Disorders

Address

Dipartimento Ospedale della donna e del bambino, Area S.Orsola - Padiglione n. 13, Via Massarenti 11, 40138, Bologna, Italy

Website

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